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Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.
- Published in:
- 2006
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- Publication type:
- journal article
Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation.
- Published in:
- European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 202, doi. 10.1007/s00431-004-1405-1
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- Publication type:
- Article
Hyponatremia secondary to severe atopic dermatitis in early infancy.
- Published in:
- Pediatrics International, 2019, v. 61, n. 6, p. 544, doi. 10.1111/ped.13865
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- Publication type:
- Article
Neonatal case of classic maple syrup urine disease: Usefulness of <sup>1</sup>H-MRS in early diagnosis.
- Published in:
- Pediatrics International, 2014, v. 56, n. 1, p. 112, doi. 10.1111/ped.12211
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- Publication type:
- Article
1p36 deletion syndrome associated with Prader–Willi-like phenotype.
- Published in:
- Pediatrics International, 2010, v. 52, n. 4, p. 547, doi. 10.1111/j.1442-200X.2010.03090.x
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- Publication type:
- Article
Abnormal steroidogenesis in three patients with Antley–Bixler syndrome: Apparent decreased activity of 17α-hydroxylase, 17,20-lyase and 21-hydroxylase.
- Published in:
- Pediatrics International, 2004, v. 46, n. 5, p. 583, doi. 10.1111/j.1442-200x.2004.01960.x
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- Publication type:
- Article
Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency.
- Published in:
- Pediatrics International, 2003, v. 45, n. 1, p. 5, doi. 10.1046/j.1442-200X.2003.01662.x
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- Publication type:
- Article
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 553, doi. 10.1038/jhg.2015.53
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- Publication type:
- Article
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 4, p. 349, doi. 10.1007/s10038-007-0122-9
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- Publication type:
- Article
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
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- Journal of Human Genetics, 2006, v. 51, n. 8, p. 706, doi. 10.1007/s10038-006-0015-3
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- Publication type:
- Article
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2430, doi. 10.1002/ajmg.a.37193
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- Publication type:
- Article
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1982, doi. 10.1002/ajmg.a.35440
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- Publication type:
- Article
PAX8 Mutation Disturbing Thyroid Follicular Growth: A Case Report.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 12, p. E2039, doi. 10.1210/jc.2011-1114
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- Publication type:
- Article
Proximal Promoter of the Cytochrome P450 Oxidoreductase Gene: Identification of Microdeletions Involving the Untranslated Exon 1 and Critical Function of the SP1 Binding Sites.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 11, p. 1881, doi. 10.1210/jc.2011-1337
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- Publication type:
- Article
Nonclassic TSH Resistance: TSHR Mutation Carriers with Discrepantly High Thyroidal Iodine Uptake.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. E1340, doi. 10.1210/jc.2011-0070
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- Publication type:
- Article
Unfavorable lipoprotein profile in childhood cancer survivors with suprasellar brain tumors—a high Apo B level and increased small dense LDL-cholesterol.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 6, p. 669, doi. 10.1007/s00381-009-0837-3
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- Publication type:
- Article
Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046008
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- Publication type:
- Article
Treatment outcomes and late toxicities in patients with embryonal central nervous system tumors.
- Published in:
- Radiation Oncology, 2014, v. 9, n. 1, p. 201, doi. 10.1186/1748-717X-9-201
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- Publication type:
- Article
Treatment outcomes and late toxicities in patients with embryonal central nervous system tumors.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 4, p. 1981, doi. 10.1210/jc.2009-2373
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- Publication type:
- Article
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 756, doi. 10.1210/jc.2009-1334
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- Publication type:
- Article
Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 5, p. 1723, doi. 10.1210/jc.2008-2816
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- Publication type:
- Article
TSHR Mutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 4, p. 1317, doi. 10.1210/jc.2008-1767
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- Publication type:
- Article
OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 10, p. 3697, doi. 10.1210/jc.2008-0720
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- Publication type:
- Article
Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 920, doi. 10.1210/jc.2007-1419
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- Publication type:
- Article
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Compound Heterozygous Mutations in the γ Subunit Gene of ENaC (1627delG and 1570-1G→A) in One Sporadic Japanese Patient with a Systemic Form of Pseudohypoaldosteronism Type 1.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 1, p. 9, doi. 10.1210/jcem.86.1.7116
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- Publication type:
- Article
A Novel Missense Mutation of Mineralocorticoid Receptor Gene in One Japanese Family with a Renal Form of Pseudohypoaldosteronism Type 1.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 12, p. 4690, doi. 10.1210/jcem.85.12.7078
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- Publication type:
- Article
Contribution of the type II secretion system in systemic infectivity of Ralstonia solanacearum through xylem vessels.
- Published in:
- Journal of General Plant Pathology, 2008, v. 74, n. 1, p. 71, doi. 10.1007/s10327-007-0061-5
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- Publication type:
- Article
Acid–Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 12, p. 1, doi. 10.1210/jendso/bvac147
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- Publication type:
- Article
Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
- Published in:
- Human Genetics, 2000, v. 107, n. 5, p. 433, doi. 10.1007/s004390000377
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- Publication type:
- Article
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 306, doi. 10.1007/s004390051042
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- Publication type:
- Article
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 191, doi. 10.1515/jpem-2018-0464
- By:
- Publication type:
- Article
Assessment of user-friendliness of the Norditropin FlexPro for pediatric patients treated with recombinant human growth hormone: results of an open-label user survey.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1105, doi. 10.1515/jpem-2013-0071
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- Publication type:
- Article
Growth Hormone Response to GH-Releasing Peptide-2 in Children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 5, p. 473, doi. 10.1515/jpem.2010.078
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- Publication type:
- Article
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 2, p. 137, doi. 10.1530/EJE-16-1049
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- Publication type:
- Article
Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 2, p. 127, doi. 10.1530/EJE-16-0194
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- Publication type:
- Article
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 1, p. 37, doi. 10.1530/EJE-14-0255
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- Publication type:
- Article
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 5, p. 625, doi. 10.1530/EJE-12-0410
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- Publication type:
- Article
Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 5, p. 829, doi. 10.1530/EJE-11-0653
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- Publication type:
- Article
Achondroplasia and enchondromatosis: report of three boys.
- Published in:
- Skeletal Radiology, 2007, v. 36, n. 0, p. 29
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- Publication type:
- Article
The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism.
- Published in:
- Thyroid Research, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13044-015-0023-5
- By:
- Publication type:
- Article
A Novel Mutation in the GATA3 Gene in a Family with HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Anomaly Syndrome).
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, n. 1, p. 87, doi. 10.1515/jpem.2006.19.1.87
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- Publication type:
- Article
Horseradish peroxidase interacts with the cell wall peptidoglycans on oral bacteria.
- Published in:
- Experimental & Therapeutic Medicine, 2020, v. 20, n. 3, p. 2822
- By:
- Publication type:
- Article
Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature.
- Published in:
- Congenital Anomalies, 2009, v. 49, n. 1, p. 8, doi. 10.1111/j.1741-4520.2008.00212.x
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- Publication type:
- Article
Growth impairment in individuals with citrin deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 501, doi. 10.1002/jimd.12051
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- Publication type:
- Article
Quantification of serum thyroid hormones using tandem mass spectrometry in patients with Down syndrome.
- Published in:
- Biomedical Chromatography, 2022, v. 36, n. 1, p. 1, doi. 10.1002/bmc.5249
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- Publication type:
- Article